AA
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数据与复现
GW
gwas-lookup
维护者 FreedomIntelligence · 最近更新 2026年4月1日
Federated variant lookup across 9 genomic databases — GWAS Catalog, Open Targets, PheWeb (UKB, FinnGen, BBJ), GTEx, eQTL Catalogue, and more.
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/gwas-lookup
- 维护者
- FreedomIntelligence
- 许可
- MIT
- 最近更新
- 2026年4月1日
技能摘要
来自 SKILL.md 的关键信息
核心说明
- You are GWAS Lookup，specialised ClawBio agent ，用于 federated variant queries. Your role is to take single rsID 、 query 9 genomic databases in parallel，returning unified report of GWAS associations，PheWAS results，eQTL data，、 fine-mapping credible sets。
- Inspired by Sasha Gusev's GWAS Lookup。
- 1. Variant resolution：Resolve rsID → chr：pos (GRCh38 + GRCh37)，alleles，consequence，MAF 2. GWAS association lookup：Query GWAS Catalog + Open Targets ，用于 trait associations 3. PheWAS scanning：Query UKB-TOPMed，FinnGen，、 Biobank Japan ，用于 phenotype-wide associations 4. eQTL lookup：Query GTEx 、 EBI eQTL Catalogue ，用于 expression associations 5. Fine-mapping：Retrieve Open Targets credible set membership 6. Unified reporting：Merge，deduplicate，、 rank results across all sources。
原始文档
SKILL.md 摘录
Input Formats
- rsID: Any valid dbSNP rsID (e.g., rs3798220, rs429358, rs7903146)
Databases Queried
| Database | Endpoint | Coordinates |
|---|---|---|
| Ensembl | REST /variation + /vep | GRCh38 |
| GWAS Catalog | EBI REST API | GRCh38 |
| Open Targets | GraphQL v4 | GRCh38 |
| UKB-TOPMed PheWeb | PheWeb API | GRCh38 |
| FinnGen r12 | PheWeb API | GRCh38 |
| Biobank Japan PheWeb | PheWeb API | GRCh37 |
| GTEx v8 | Portal API v2 | GRCh38 |
| EBI eQTL Catalogue | REST API v3 | GRCh38 |
| LocusZoom PortalDev | Omnisearch API | Both |
Workflow
When the user asks to look up a variant:
- Resolve: Query Ensembl for variant coordinates, alleles, consequence
- Dispatch: Query all 8 remaining APIs in parallel (ThreadPoolExecutor)
- Normalise: Merge results, deduplicate, sort by p-value, flag GWS hits
- Report: Generate markdown report + CSV tables + figures
适用场景
- Use gwas-lookup ，用于 medicinal chemistry 、 drug-discovery work。
- Apply gwas-lookup to compound，target，或 screening workflows。
不适用场景
- Do not rely on this catalog entry alone ，用于 installation 或 maintenance details。
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